puberty and gonadal disorders Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008373
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Genes

231 genes associated with the puberty and gonadal disorders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AGGF1 angiogenic factor with G patch and FHA domains 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
ALDOA aldolase A, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AR androgen receptor
ARL6 ADP-ribosylation factor-like 6
ARMC5 armadillo repeat containing 5
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
CAV1 caveolin 1, caveolae protein, 22kDa
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNBP CCHC-type zinc finger, nucleic acid binding protein
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CREBBP CREB binding protein
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DCAF17 DDB1 and CUL4 associated factor 17
DHCR7 7-dehydrocholesterol reductase
DHH desert hedgehog
DMPK dystrophia myotonica-protein kinase
DUSP6 dual specificity phosphatase 6
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELN elastin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC8 excision repair cross-complementation group 8
ESR1 estrogen receptor 1
F10 coagulation factor X
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FAM111B family with sequence similarity 111, member B
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FEZF1 FEZ family zinc finger 1
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGG fibrinogen gamma chain
FLII flightless I homolog (Drosophila)
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXL2 forkhead box L2
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
G6PC glucose-6-phosphatase, catalytic subunit
GALT galactose-1-phosphate uridylyltransferase
GFI1B growth factor independent 1B transcription repressor
GHR growth hormone receptor
GLA galactosidase, alpha
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP1BB glycoprotein Ib (platelet), beta polypeptide
GP6 glycoprotein VI (platelet)
GP9 glycoprotein IX (platelet)
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IER3IP1 immediate early response 3 interacting protein 1
IFT27 intraflagellar transport 27
IL17RD interleukin 17 receptor D
INSR insulin receptor
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGA8 integrin, alpha 8
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KDM6A lysine (K)-specific demethylase 6A
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX4 LIM homeobox 4
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MCFD2 multiple coagulation factor deficiency 2
MKKS McKusick-Kaufman syndrome
MKRN3 makorin ring finger protein 3
MKS1 Meckel syndrome, type 1
MYH9 myosin, heavy chain 9, non-muscle
NBEAL2 neurobeachin-like 2
NDN necdin, melanoma antigen (MAGE) family member
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSD1 nuclear receptor binding SET domain protein 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX2 paired box 2
PCNT pericentrin
PCSK1 proprotein convertase subtilisin/kexin type 1
PGM1 phosphoglucomutase 1
PHF6 PHD finger protein 6
PLAU plasminogen activator, urokinase
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POF1B premature ovarian failure, 1B
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRLR prolactin receptor
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PSMC3IP PSMC3 interacting protein
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUS1 pseudouridylate synthase 1
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RBM28 RNA binding motif protein 28
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RNF216 ring finger protein 216
SCP2 sterol carrier protein 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SIL1 SIL1 nucleotide exchange factor
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SPRY4 sprouty homolog 4 (Drosophila)
SRY sex determining region Y
SSTR5 somatostatin receptor 5
STAG3 stromal antigen 3
STAR steroidogenic acute regulatory protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STEAP3 STEAP family member 3, metalloreductase
STK11 serine/threonine kinase 11
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TBL2 transducin (beta)-like 2
TBX3 T-box 3
TFR2 transferrin receptor 2
TGFB1 transforming growth factor, beta 1
TNXB tenascin XB
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC8 tetratricopeptide repeat domain 8
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VWF von Willebrand factor
WAS Wiskott-Aldrich syndrome
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WIPF1 WAS/WASL interacting protein family, member 1
WNT4 wingless-type MMTV integration site family, member 4
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1